Clinical Neuropathology最新文献

{"title":"Clinical Neuropathology 3-2025.","authors":"Christian Mawrin","doi":"10.5414/NPP44081","DOIUrl":"10.5414/NPP44081","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Neuropathology 3-2025 - 13th European Congress of Neuropathology: Welcome from the Congress President Bela Kubat.","authors":"Bela Kubat","doi":"10.5414/NPP44097","DOIUrl":"10.5414/NPP44097","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"13th European Congress of Neuropathology - Maastricht, the Netherlands, June 11th - June 14th, 2025.","authors":"Bela Kubat","doi":"10.5414/NPP44098","DOIUrl":"10.5414/NPP44098","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of 10q loss, <i>CDKN2A</i> deletions, <i>EGFR</i> amplification, and trisomy of chromosome 7 in the overall survival of IDH-mutant astrocytoma.","authors":"Mónica B Mezmezian, Naomi Arakaki, Blanca Diez, Horacio Martinetto, Gustavo Sevlever","doi":"10.5414/NP301667","DOIUrl":"10.5414/NP301667","url":null,"abstract":"<p><strong>Introduction: </strong>Since progression from grade 2 to grade 4 occurs in the evolution of IDH-mutant astrocytoma (A, IDH-mut), it is crucial to identify the key factors that define the different grades.</p><p><strong>Aims: </strong>To evaluate the impact on overall survival (OS) of molecular alterations traditionally associated with high-grade gliomas within the grading scheme.</p><p><strong>Materials and methods: </strong>We retrospectively analyzed the role of 10q loss, <i>CDKN2A</i> deletions, <i>EGFR</i> amplification (Amp), and trisomy of chromosome 7 (trisomy 7) in 189 A, IDH-mut, reclassified according to the WHO 2021 criteria (grade 2, n = 133; grade 3, n = 18; grade 4, n = 38).</p><p><strong>Results: </strong>Among the 189 cases, 29 presented with <i>CDKN2A</i> hemizygous deletion (hemidel), 17 with <i>CDKN2A</i> homozygous deletion, 18 showed trisomy 7, and 2 showed <i>EGFR</i> Amp. A multivariate test revealed that WHO grade 4 and trisomy 7 significantly impacted OS. <i>CDKN2A</i> hemidel and 10q loss did not influence OS in our cohort. Given that 11 out of 18 cases with trisomy 7 were IDH-mutant grade 2 (G2), we compared G2 cases with and without trisomy 7 and found worse OS in cases with trisomy (p = 0.0034), similar to WHO grade 4.</p><p><strong>Conclusion: </strong>Our results suggest that trisomy 7 plays a significant role in the OS of A, IDH-mut. Further research is needed to determine whether trisomy 7 is an independent marker or if it is associated with other molecular alterations that affect OS.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary intracranial smooth muscle tumors in immunocompromised patients.","authors":"Hema A Venkatappa, Shilpa Rao, Anita Mahadevan, Pari Kodaiyarasan","doi":"10.5414/NP301675","DOIUrl":"10.5414/NP301675","url":null,"abstract":"<p><p>Primary intracranial smooth muscle tumors are rare and range from benign to malignant. We report 2 patients with primary intracranial smooth muscle neoplasms in immunocompromised host, 1 patient each with primary intracranial leiomyoma and primary intracranial leiomyosarcoma, both of whom clinically and radiologically mimicked meningioma. Both patients were human immunodeficiency virus (HIV) positive. Hence, smooth muscle neoplasms should be considered in the differential diagnosis of well-circumscribed intracranial lesion, especially in immunocompromised patients.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The crucial role of cerebrospinal fluid cytology in the diagnosis and prognosis of medulloblastoma at M1 stage.","authors":"Nithye Parvathy, Neha Bhardwaj, Radhika Srinivasan, Nalini Gupta, Parikshaa Gupta, Manish Rohilla, Reetu Kundu, Pranab Dey, Kirti Gupta, Nandita Kakkar, Amita Trehan, Paramjeet Singh, Renu Madan, Pravin Salunke","doi":"10.5414/NP301656","DOIUrl":"https://doi.org/10.5414/NP301656","url":null,"abstract":"<p><strong>Introduction: </strong>Medulloblastoma is the most common pediatric malignant embryonal tumor of the cerebellum. In the absence of radiologically proven metastasis, lumbar puncture with cytological examination of the cerebrospinal fluid (CSF) is mandatory for identification of the M1 stage. This study aims to evaluate CSF cytomorphology and prognosis of the M1 stage.</p><p><strong>Materials and methods: </strong>A retrospective 6-year audit (2017 - 2023) was performed for all cases of medulloblastoma on histopathology (n = 303). CSF cytology was evaluated in 177 cases on 2 routinely prepared smears after cytocentrifugation. A detailed evaluation of cytomorphological features and corresponding histopathology was performed and correlated with outcome in M1 stage cases (n = 18).</p><p><strong>Results: </strong>Out of 177 cases of histopathology-proven medulloblastoma, CSF cytology was reported as positive for infiltration in 18 cases (14 classical and 4 desmoplastic variants) and were assigned M1 stage. The median age of the patients was 7.5 years. CSF smear showed high cellularity with malignant cell clusters of more than 200 cells in 8 cases, whereas 4 cases had low cellularity with scattered cells and admixed with inflammatory cells. Tumor cells showed a high nucleocytoplasmic ratio, coarse chromatin, and prominent nuclear molding. Nucleoli were inconspicuous in 9 cases but were prominent and eosinophilic in 9 cases. The median overall survival (OS) and progression-free survival (PFS) in M1 stage medulloblastoma was poor, 2 months and 1 month, respectively. There was a difference in age and tumor histology among the M0, M1, and M2/3 stage medulloblastomas.</p><p><strong>Conclusion: </strong>CSF infiltration by medulloblastoma cells characterized by high nucleocytoplasmic ratio, nuclear molding, and coarse chromatin, represents the M1 stage and portends a poor prognosis.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent isolated orbital neurofibromas in the absence of NF-1: Clinical insights and diagnostic challenges.","authors":"Hilal Toprak Tellioglu, Irem Koc, Hayyam Kiratli, Selma Yeni Yildirim, Figen Söylemezoglu","doi":"10.5414/NP301683","DOIUrl":"https://doi.org/10.5414/NP301683","url":null,"abstract":"<p><p>Orbital neurofibromas are benign tumors originating from the peripheral nerve sheath, often linked to neurofibromatosis type 1 (NF-1) [1], although they account for less than 1% of all orbital tumors [2, 3]. These tumors can cause symptoms such as proptosis, vision impairment, and ocular misalignment [4]. While typically linked to NF-1, multiple isolated orbital neurofibromas in the absence of a definitive NF-1 diagnosis remain exceedingly rare, warranting clinical attention. A 56-year-old female presented with ptosis and dystopia on the right side. MRI revealed multiple intraorbital and extraconal masses, with the largest being excised via anterior orbitotomy. Histopathological analysis confirmed the diagnosis of neurofibroma. The patient had no cutaneous or systemic signs suggestive of NF-1. In adults, multiple orbital tumors should prompt suspicion for neurofibromas, even when NF-1 is not confirmed. Furthermore, recurrence is possible, emphasizing the importance of long-term follow-up. This case highlights the diagnostic challenge posed by orbital neurofibromas without NF-1 and the need for comprehensive systemic evaluation in such presentations.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Three cases of pituicytoma with a review of the literature and insight into a rare variant of ependymal pituicytoma.","authors":"Koustav Ghosal, Apoorva Kanthaje, Nandita Ghosal, Sunitha Palasamudram, Sumit Thakar, Saritha Aryan","doi":"10.5414/NP301662","DOIUrl":"https://doi.org/10.5414/NP301662","url":null,"abstract":"<p><p>Pituicytomas are rare tumors of the pituitary gland arising along the distribution of the neurohypophysis in adults. Due to their rarity and varied radiological appearances, they are difficult to diagnose preoperatively. This is a small case series of 3 cases of pituicytoma, wherein, we highlight a rare case of ependymal pituicytoma in a 46-year-old man who presented with progressive loss of vision on both eyes. The patient presented with a suprasellar mass that on histopathological examinations was diagnosed as ependymal pituicytoma. Both histopathological and radiological diagnostic challenges are discussed of this rare case along with the other two cases of pituicytoma for comparison.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Neuropathology 2-2025.","authors":"Christian Mawrin","doi":"10.5414/NPP44043","DOIUrl":"https://doi.org/10.5414/NPP44043","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"44 2","pages":"43"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Highly infiltrative brain metastasis of RET mutant lung primary: Morphometric assessment and molecular review.","authors":"Tayler Gant, Serguei Bannykh","doi":"10.5414/NP301658","DOIUrl":"10.5414/NP301658","url":null,"abstract":"<p><strong>Aims: </strong>Histologic differentiation between primary brain tumors and metastases is an important aspect of intraoperative consultation. We present a case of metastatic carcinoma with microscopic features overlapping with that of an infiltrative glioma.</p><p><strong>Materials and methods: </strong>We present a case of a 51-year-old female with a history of recurrent metastatic non-small cell lung carcinoma (NSCLC). We developed a morphometric approach to contrast the pattern of brain invasion of our index case to that of CNS WHO grade 4, IDH1 R132H mutant astrocytoma, diffuse large B-cell lymphoma (DLBCL), melanoma, and other adenocarcinomas of the lung primary. We designed two novel parameters: number of tumor cells per cluster and percentage of mutual overlap by tumor cells, to quantitatively assess the degree of brain infiltration and invasion of each malignancy. Next, we analyzed our Institutional Database of the molecular findings for all primary lung metastasis to the brain with in-house next-generation sequencing (NGS) panel.</p><p><strong>Results and conclusion: </strong>Carcinoma and melanoma showed the largest cluster sizes of cells with an average cluster size of 238 ± 32 and 41 ± 5 cells, and DLBCL had an average of 3.2 ± 0.3 cells per cluster. When we compared extent of cell-to-cell coverage, DLBCL had the largest coverage with an average of 90 ± 8%, adenocarcinoma of the lung had 85 ± 7%, and melanoma had 55 ± 5%. The infiltrative features in this case are commonly seen in diffuse gliomas and are not characteristic of metastases. The molecular findings of co-mutation of <i>RET</i> and <i>TP53</i> suggest these could emerge as possible drivers of a more infiltrative growth pattern.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"67-74"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}